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Differential DNA mismatch repair underlies mutation rate variation across the human genome

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  • Fran Supek

    (EMBL-CRG Systems Biology Unit, Centre for Genomic Regulation (CRG), 08003 Barcelona, Spain
    Universitat Pompeu Fabra (UPF), 08003 Barcelona, Spain
    Rudjer Boskovic Institute, 10000 Zagreb, Croatia)

  • Ben Lehner

    (EMBL-CRG Systems Biology Unit, Centre for Genomic Regulation (CRG), 08003 Barcelona, Spain
    Universitat Pompeu Fabra (UPF), 08003 Barcelona, Spain
    Institució Catalana de Recerca i Estudis Avançats (ICREA), 08010 Barcelona, Spain)

Abstract

An analysis of how regional mutation rates vary across 652 tumours identifies variable DNA mismatch repair as the basis of the characteristic regional variation in mutation rates seen across the human genome; the results show that differential DNA repair, rather than differential mutation supply, is likely to be the primary cause of this variation.

Suggested Citation

  • Fran Supek & Ben Lehner, 2015. "Differential DNA mismatch repair underlies mutation rate variation across the human genome," Nature, Nature, vol. 521(7550), pages 81-84, May.
    • Handle: RePEc:nat:nature:v:521:y:2015:i:7550:d:10.1038_nature14173
    DOI: 10.1038/nature14173
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    Cited by:

    1. Gongwang Yu & Yao Liu & Zizhang Li & Shuyun Deng & Zhuoxing Wu & Xiaoyu Zhang & Wenbo Chen & Junnan Yang & Xiaoshu Chen & Jian-Rong Yang, 2023. "Genome-wide probing of eukaryotic nascent RNA structure elucidates cotranscriptional folding and its antimutagenic effect," Nature Communications, Nature, vol. 14(1), pages 1-18, December.
    2. Kseniia Cheloshkina & Maria Poptsova, 2021. "Comprehensive analysis of cancer breakpoints reveals signatures of genetic and epigenetic contribution to cancer genome rearrangements," PLOS Computational Biology, Public Library of Science, vol. 17(3), pages 1-23, March.
    3. Miguel M. Álvarez & Josep Biayna & Fran Supek, 2022. "TP53-dependent toxicity of CRISPR/Cas9 cuts is differential across genomic loci and can confound genetic screening," Nature Communications, Nature, vol. 13(1), pages 1-14, December.
    4. Mischan Vali-Pour & Solip Park & Jose Espinosa-Carrasco & Daniel Ortiz-Martínez & Ben Lehner & Fran Supek, 2022. "The impact of rare germline variants on human somatic mutation processes," Nature Communications, Nature, vol. 13(1), pages 1-21, December.
    5. Paola Cornejo-Páramo & Veronika Petrova & Xuan Zhang & Robert S. Young & Emily S. Wong, 2024. "Emergence of enhancers at late DNA replicating regions," Nature Communications, Nature, vol. 15(1), pages 1-15, December.

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